Standout Papers
Citation Impact
Citing Papers
A Decade of Molecular Studies of Fragile X Syndrome
2002
Functional specialization of β-arrestin interactions revealed by proteomic analysis
2007 StandoutNobel
A metabolic labeling approach toward proteomic analysis of mucin-type O-linked glycosylation
2003 StandoutNobel
The Molecular Genetics of Human Hemoglobin
1984
FMR1 Protein: Conserved RNP Family Domains and Selective RNA Binding
1993 Science
KH domains within the FMR1 sequence suggest that fragile X syndrome stems from a defect in RNA metabolism
1993
A Drosophila fragile X protein interacts with components of RNAi and ribosomal proteins
2002
Advances in Molecular Analysis of Fragile X Syndrome
1994
A heterogeneous set of FMR1 proteins is widely distributed in mouse tissues and is modulated in cell culture
1995
Fragile X mental retardation protein is translated near synapses in response to neurotransmitter activation
1997
The fragile X mental retardation syndrome protein interacts with novel homologs FXR1 and FXR2.
1995
MicroRNAs
2004 Standout
The tor pathway: a target for cancer therapy
2004 Standout
The tuberous sclerosis gene products hamartin and tuberin are multifunctional proteins with a wide spectrum of interacting partners
2008
Expression of cDNA encoding the human “protective protein≓ associated with lysosomal β-galactosidase and neuraminidase: Homology to yeast proteases
1988
TRIBE: Hijacking an RNA-Editing Enzyme to Identify Cell-Specific Targets of RNA-Binding Proteins
2016 StandoutNobel
Mutation profile of theGAA gene in 40 Italian patients with late onset glycogen storage disease type II
2006
MEX-3 Is a KH Domain Protein That Regulates Blastomere Identity in Early C. elegans Embryos
1996 StandoutNobel
A Drosophila model for xeroderma pigmentosum and Cockayne's syndrome: haywire encodes the fly homolog of ERCC3, a human excision repair gene
1992
Upstream and downstream of mTOR
2004 Standout
Comprehensive Proteomic Analysis of Interphase and Mitotic 14-3-3-binding Proteins
2004
Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene
1992 Nature
TANGO1 Facilitates Cargo Loading at Endoplasmic Reticulum Exit Sites
2009 StandoutNobel
Inherited lysosomal storage disease associated with deficiencies of β‐galactosidase and α‐neuraminidase in sheep
1988
Catabolism of N-glycoproteins in mammalian cells: Molecular mechanisms and genetic disorders related to the processes
2016
Glycosylation in health and disease
2019
Drosophila Fragile X-Related Gene Regulates the MAP1B Homolog Futsch to Control Synaptic Structure and Function
2001
Conjugation of Mannose 6-Phosphate-containing Oligosaccharides to Acid α-Glucosidase Improves the Clearance of Glycogen in Pompe Mice
2004
Hypoglossal Neuropathology and Respiratory Activity in Pompe Mice
2011
Engineering of GlcNAc-1-Phosphotransferase for Production of Highly Phosphorylated Lysosomal Enzymes for Enzyme Replacement Therapy
2017
Thymic selection in CD8 transgenic mice supports an instructive model for commitment to a CD4 or CD8 lineage
1991 StandoutNobel
Cross-Intron Bridging Interactions in the Yeast Commitment Complex Are Conserved in Mammals
1997 StandoutNobel
A comparative study of the accumulated sialic acid-containing oligosaccharides from cultured human galactosialidosis and sialidosis fibroblasts
1988
Piezo2 senses airway stretch and mediates lung inflation-induced apnoea
2016 StandoutNatureNobel
Lysosome-targeting chimaeras for degradation of extracellular proteins
2020 StandoutNatureNobel
Protein Sequence Editing of SKN-1A/Nrf1 by Peptide:N-Glycanase Controls Proteasome Gene Expression
2019 StandoutNobel
tea1 and the Microtubular Cytoskeleton Are Important for Generating Global Spatial Order within the Fission Yeast Cell
1997 StandoutNobel
Small RNAs are modified with N-glycans and displayed on the surface of living cells
2021 StandoutNobel
Lysosomal storage diseases
1995
Sulfatase-activated fluorophores for rapid discrimination of mycobacterial species and strains
2013 StandoutNobel
Mouse model for the lysosomal disorder galactosialidosis and correction of the phenotype with overexpressing erythroid precursor cells.
1995 StandoutNobel
Macular cherry-red spots and myoclonus with dementia: Coexistent neuraminidase and β-galactosidase deficiencies
1978
Coated pits, coated vesicles, and receptor-mediated endocytosis
1979 StandoutNatureNobel
Storage of sialic acid‐containing carbohydrates in the placenta of a human galactosialidosis fetus
1988
Genetic transformation of mouse embryos by microinjection of purified DNA.
1980
Role of Acidic Intracellular Compartments in the Biosynthesis of Dictyostelium Lysosomal Enzymes
1989
Genetic instability at the adenine phosphoribosyltransferase locus in mouse L cells.
1982
Novel Chinese hamster ultraviolet-sensitive mutants for excision repair form complementation groups 9 and 10.
1991
DNA excision-repair defect of xeroderma pigmentosum prevents removal of a class of oxygen free radical-induced base lesions.
1993 StandoutNobel
Successive generations of mice produced from an established culture line of euploid teratocarcinoma cells
1981
Introduction and expression of a fetal human globin gene in mouse fibroblasts.
1982 StandoutNobel
eIF3d is an mRNA cap-binding protein that is required for specialized translation initiation
2016 StandoutNatureNobel
A tissue-specific transcription enhancer element is located in the major intron of a rearranged immunoglobulin heavy chain gene
1983 StandoutNobel
A gene deletion ending within a complex array of repeated sequences 3' to the human beta-globin gene cluster.
1986 StandoutNobel
Mice with mutations of Dock7 have generalized hypopigmentation and white-spotting but show normal neurological function
2009 StandoutNobel
Recurrent germ‐line transmission of the teratocarcinoma genome from the METT‐1 culture line to progeny in vivo
1982
Human placental β-galactosidase. Characterization of the dimer and complex forms of the enzyme
1992
Mistargeting of the Lectin ERGIC-53 to the Endoplasmic Reticulum of HeLa Cells Impairs the Secretion of a Lysosomal Enzyme
1998
Proliferation of multipotent hematopoietic cells controlled by a truncated erythropoietin receptor transgene.
1996 StandoutNobel
High-Frequency Transfer of Cloned Herpes Simplex Virus Type 1 Sequences to Mammalian Cells by Protoplast Fusion
1981
2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy
2011 Standout
Autonomous in Vitro Anticancer Drug Release from Mesoporous Silica Nanoparticles by pH-Sensitive Nanovalves
2010 StandoutNobel
The relation between human lysosomal beta-galactosidase and its protective protein.
1983
Intracellular protein topogenesis
1980 StandoutNobel
Gene amplification and gene correction in somatic cells
1982 StandoutNobel
The transport of lysosomal enzymes
1977
Schizosaccharomyces pombe sxa1+ and sxa2+ encode putative proteases involved in the mating response.
1992
Purification of acid β-galactosidase and acid neuraminidase from bovine testis: Evidence for an enzyme complex
1982
Abnormal dendritic spines in fragile X knockout mice: Maturation and pruning deficits
1997 Standout
THE GENETIC BASIS FOR CARDIAC REMODELING
2005
Expression of foreign genes from retroviral vectors in mouse teratocarcinoma chimaeras.
1985
A Receptor-Mediated Pathway for Cholesterol Homeostasis
1986 StandoutScienceNobel
DNA-mediated genetic transformation of mouse embryos and bone marrow—a review
1985
Radiation-induced Lethality and Mutation in a Repair-deficient CHO Cell Line
1983
High-frequency germ-line transmission of plasmid DNA sequences injected into fertilized zebrafish eggs.
1991 StandoutNobel
Germ-line transmission of genes introduced into cultured pluripotential cells by retroviral vector
1986 StandoutNatureNobel
The Caenorhabditis elegans mucolipin-like gene cup-5 is essential for viability and regulates lysosomes in multiple cell types
2002 StandoutNobel
Fmr1 knockout mice: A model to study fragile X mental retardation
1994
Identification and in Vitro Reconstitution of Lysosomal Neuraminidase from Human Placenta
1989
Functional and inducible expression of a transfected murine class II major histocompatibility complex gene.
1984 StandoutNobel
Delivery technologies for genome editing
2017
Homologous recombination between plasmids in mammalian cells can be enhanced by treatment of input DNA.
1984 StandoutNobel
Senescence-associated β-galactosidase reflects an increase in lysosomal mass during replicative ageing of human endothelial cells
2000
Coordinate modulation of transfected HSV thymidine kinase and human globin genes
1983 StandoutNobel
Genetic transformation of murine bone marrow cells to methotrexate resistance
1983
Human placental neuraminidase
1985
Identification of the eleventh complementation group of UV-sensitive excision repair-defective rodent mutants.
1992
Polymorphisms in the human haptoglobin gene cluster: chromosomes with multiple haptoglobin-related (Hpr) genes.
1986 StandoutNobel
Yeast RAD3 protein binds directly to both SSL2 and SSL1 proteins: implications for the structure and function of transcription/repair factor b.
1994 StandoutNobel
Expression of the herpes thymidine kinase gene in Xenopus laevis oocytes: an assay for the study of deletion mutants constructed in vitro
1980
Analysis of transcriptional regulatory signals of the HSV thymidine kinase gene: Identification of an upstream control region
1981 StandoutNobel
Serotonin receptor 1A knockout: An animal model of anxiety-related disorder
1998
Serotonin receptor knockouts: A moody subject
1998 StandoutNobel
The silent carrier allele: β thalassemia without a mutation in the β-globin gene or its immediate flanking regions
1984 StandoutNobel
Normal development is an integral part of tumorigenesis in T cell-specific PTEN-deficient mice
2008 StandoutNobel
Animal cell mutants defective in glycosaminoglycan biosynthesis.
1985
Genetic Instability at the Adenine Phosphoribosyltransferase Locus in Mouse L Cells
1982
Formation of germ-line chimaeras from embryo-derived teratocarcinoma cell lines
1984 StandoutNatureNobel
Steroid Sulfatase: Molecular Biology, Regulation, and Inhibition
2005
Insertion of DNA sequences into the human chromosomal β-globin locus by homologous recombination
1985 StandoutNatureNobel
Introduction and Expression of a Fetal Human Globin Gene in Mouse Fibroblasts
1982 StandoutNobel
Molecular cloning of the human nucleotide-excision-repair gene ERCC4.
1994 StandoutNobel
Modulation of transfected gene expression mediated by changes in chromatin structure
1982
Copurification and separation of β-galactosidase and sialidase from porcine testis
1987
Mouse neurexin-1α deletion causes correlated electrophysiological and behavioral changes consistent with cognitive impairments
2009 StandoutNobel
Differences in human α- and β-globin gene expression in mouse erythroleukemia cells: The role of intragenic sequences
1984 StandoutNobel
Human lysosomal protective protein has cathepsin A-like activity distinct from its protective function
1991
Nontoxic nanopore electroporation for effective intracellular delivery of biological macromolecules
2019 StandoutNobel
Works of Arnold Reuser being referenced
Characterization and localization of the FMR-1 gene product associated with fragile X syndrome
1993 Nature
Intravenous administration of phosphorylated acid alpha-glucosidase leads to uptake of enzyme in heart and skeletal muscle of mice.
1991
Glycogen storage disease type II: identification of a dinucleotide deletion and a common missense mutation in the lysosomal α‐glucosidase gene
1998
Enzyme therapy for Pompe disease: from science to industrial enterprise
2002
Pathological features of glycogen storage disease type II highlighted in the knockout mouse model
1999
Biosynthesis of human α-N-acetylgalactosaminidase: Defective phosphorylation and maturation in infantile α-NAGA deficiency
1991
Isolation and Structural Characterization of Twenty-One Sialyloligosaccharides from Galactosialidosis Urine. An Intact N,N′-Diacetylchitobiose Unit at the Reducing End of a Diantennary Structure
1989
Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II
2003
Pompe's disease
2008
l-alanine supplementation in late infantile glycogen storage disease type II
2002
Mutation Detection in Glycogen Storage Disease Type II by RT-PCR and Automated Sequencing
1997
Human Acid -Glucosidase from Rabbit Milk Has Therapeutic Effect in Mice with Glycogen Storage Disease Type II
1999
Ultrastructural localization of steroid sulphatase in cultured human fibroblasts by immunocytochemistry: A comparative study with lysosomal enzymes and the mannose 6-phosphate receptor
1988
Enzyme replacement therapy in late‐onset Pompe's disease: A three‐year follow‐up
2004
Expression of cDNA-encoded human acid α-glucosidase in milk of transgenic mice
1996
Two mutations affecting the transport and maturation of lysosomal α-glucosidase in an adult case of glycogen storage disease type II
1993
The effect of a single base pair deletion (ΔT525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal α-glucosidase in patients with glycogen storage disease type II
1994
Identification and Characterization of the Interaction between Tuberin and 14-3-3ζ
2002
Identification of a point mutation in the human lysosomal α-glucosidase gene causing infantile glycogenosis type II
1991
Synthesis and In Situ Localization of Lysosomal α-Glucosidase in Muscle of an Unusual Variant of Glycogen Storage Disease Type II
1993
An Immunoelectron Microscopic Study of Glucocerebrosidase in Type 1 Gaucher's Disease Spleen
1988
Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man.
1982
Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex.
1988
Disease severity in children and adults with Pompe disease related to age and disease duration
2005
GM1-gangliosidosis. Defective recognition site on beta-galactosidase precursor.
1986
Characterization of the human lysosomal α-glucosidase gene
1990
Genetic heterogeneity in GM1-gangliosidosis
1975 Nature
The Natural Course of Infantile Pompe’s Disease: 20 Original Cases Compared With 133 Cases From the Literature
2003
Isolation of Chinese hamster ovary cells with reduced unscheduled DNA synthesis after UV irradiation
1982
The conservative substitution Asp-645→Glu in lysosomal α-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type II
1993
Mouse teratocarcinoma mutant clones deficient in adenine phosphoribosyltransferase and developmentally pluripotent
1979
Introduction of a viral thymidine kinase gene and the human β-globin gene into developmentally multipotential mouse teratocarcinoma cells
1980 StandoutNobel
Human lysosomal alpha-glucosidase. Characterization of the catalytic site
1991
Enzyme therapy for Pompe disease: from science to industrial enterprise
2002
Atypical expression of ß‐galactosidase deficiency in a child with Hurler‐like features but without neurological abnormalities
1978
Cardiac remodeling and contractile function in acid α-glucosidase knockout mice
2001
Intercellular exchange of lysosomal enzymes: Enzyme assays in single human fibroblasts after co-cultivation
1976
Expression and routeing of human lysosomal α-glucosidase in transiently transfected mammalian cells
1990
Biosynthesis and intracellular transport of α‐glucosidase and cathepsin D in normal and mutant human fibroblasts
1985
Isolation and characterization of a precursor form of lysosomal α‐glucosidase from human urine
1984
Clinical diversity in glycogenosis type II. Biosynthesis and in situ localization of acid alpha-glucosidase in mutant fibroblasts.
1987
Human lysosomal α-glucosidase: functional characterization of the glycosylation sites
1993
Structural and functional changes of lysosomal acid alpha-glucosidase during intracellular transport and maturation.
1993
Enhanced proteolytic degradation of normal β-galactosidase in the lysosomal storage disease with combined β-galactosidase and neuraminidase deficiency
1982